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DO Term : autosomal dominant intellectual developmental disorder 38 [DOID:0070068] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33.

synonyms:
autosomal dominant non-syndromic intellectual disability 38,
616393,
PRELDS,
psychomotor retardation, epilepsy, and language disability syndrome,
autosomal dominant mental retardation 38,
OMIM:616393,
MRD38

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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